Article
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Human genomics - 3 Jul 2018
Fichna Jakub Piotr, Macias Anna, Piechota Marcin, Korostyński Michał, Potulska-Chromik Anna, Redowicz Maria Jolanta, Zekanowski Cezary
Abstract excerpt
BACKGROUND: Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis. METHODS: Whole exome sequencing (WES) was performed in 73 patients with clinically diagnosed LGMD. A filtering strategy aimed at identification...
Topics
- Adolescent
- Adult
- Aged
- Calcium Channels
- Calcium Channels, L-Type
- Calpain
- Cardiac Myosins
- Child
- Child, Preschool
- Collagen Type VI
- Dysferlin